XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 GeneticVariation disease BEFREE Furthermore, sequence variations in the XT-I and XT-II coding genes were identified as risk factors for diabetic nephropathy, osteoarthritis or pseudoxanthoma elasticum. 17437056 2007
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 GeneticVariation disease UNIPROT Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. 16571645 2006
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 GeneticVariation disease BEFREE Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. 16571645 2006
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.520 Biomarker disease CTD_human Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. 16571645 2006
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease BEFREE Intrafamilial variability of XYLT2-related spondyloocular syndrome. 30496831 2019
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease GENOMICS_ENGLAND Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. 29136277 2018
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. 29136277 2018
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE Two novel mutations in XYLT2 cause spondyloocular syndrome. 28884924 2017
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease GENOMICS_ENGLAND We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. 26987875 2016
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. 26987875 2016
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease GENOMICS_ENGLAND These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. 26027496 2015
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease BEFREE Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. 26027496 2015
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 Biomarker disease GENOMICS_ENGLAND These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. 26027496 2015
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 CausalMutation disease CLINVAR
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.450 GeneticVariation disease CLINVAR
CUI: C1853925
Disease: Spondyloocular Syndrome, Autosomal Recessive
Spondyloocular Syndrome, Autosomal Recessive 		0.300 GermlineCausalMutation disease ORPHANET Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. 26027496 2015
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 16571645 2006
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.300 Biomarker disease CTD_human Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 16571645 2006
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.200 Biomarker group MGD
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease BEFREE In conclusion, the present study suggests that PvuII and XbaI polymorphims of the ER-alpha gene, age, years since menopause and educational level are associated with bone density, as assessed by calcaneal SOS, and osteoporosis in postmenopausal Vietnamese women. 16972020 2006
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Homozygous XYLT2 variants as a cause of spondyloocular syndrome. 29136277 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Homozygous XYLT2 variants as a cause of spondyloocular syndrome. 29136277 2018